rs587777466(T;T)
From SNPedia
| Pontocerebellar hypoplasia type 2E |
| Is a | genotype |
| of | rs587777466 |
| Gene | VPS53 |
| Chromosome | 17 |
| Position | 562,498 |
| mentioned | by |
| Magnitude | 9 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Pontocerebellar hypoplasia type 2E mutation |
| (G;G) | 0 | common in clinvar |
| (T;T) | 9 | Pontocerebellar hypoplasia type 2E |
see Pontocerebellar hypoplasia type 2E and VPS53 gene
